Pediatric Nephrology

, Volume 9, Issue 6, pp 705–710 | Cite as

Glomerular and tubular function in glycogen storage disease

  • Philip J. Lee
  • R. Neil Dalton
  • Vanita Shah
  • Peter C. Hindmarsh
  • James V. Leonard
Original Article


Urinary protein and calcium excretion were assessed in 77 patients with the hepatic glycogen storage diseases (GSD): 30 with GSD-I (median age 12.4 years, range 3.2–32.9 years), 25 with GSD-III (median age 10.5 years, range 4.2–31.3 years) and 22 with GSD-IX (median age 11.8 years, range 1.2–35.4 years). Inulin (Cinulin) and para-aminohippuric acid (CPAH) clearances were also measured in 33 of these patients. Those with GSD-I had significantly greater albumin (F=15.07,P<0.001), retinolbinding protein (RBP) (F=14.66,P<0.001),N-acetyl-β-d glucosaminidase (NAG) (F=9.41,P<0.001) and calcium (F=7.41,P=0.001) excretion than those with GSD-III and GSD-IX. GSD-I patients (n=18) also had significantly higherCinulin (F=5.57,P=0.009), butCPAH did not differ (F=0.77, NS). Renal function was normal in GSD-III and GSD-IX patients. In GSD-I,Cinulin (r=−0.51,P=0.03) and NAG excretion (r=−0.40,P=0.03) were inversely correlated with age, whereas albumin excretion was positively correlated with age (r=+0.41,P=0.03). RBP and calcium excretion were generally high throughout all age groups. Hyperfiltration in GSD-I is associated with renal tubular proteinuria that occurs before the onset of significant albuminuria. Deficiency of glucose-6-phosphatase within the proximal renal tubule may primarily cause tubular dysfunction, glomerular hyperfiltration being a secondary phenomenon.

Key words

Glycogen storage disease Hyperfiltration Proteinuria Hypercalciuria Tubular function 


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Copyright information

© IPNA 1995

Authors and Affiliations

  • Philip J. Lee
    • 1
  • R. Neil Dalton
    • 2
  • Vanita Shah
    • 3
  • Peter C. Hindmarsh
    • 1
  • James V. Leonard
    • 1
  1. 1.The International Growth Research Centre at the London Centre for Paediatric Endocrinology and MetabolismInstitute of Child HealthLondonUK
  2. 2.Department of Paediatric BiochemistryGuy's HospitalLondonUK
  3. 3.Department of Renal BiochemistryInstitute of Child HealthLondonUK

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